P13R (p.Pro13Arg) variant of CHRNA4 (P43681)
P13R (p.Pro13Arg) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial sleep-related hypermotor epilepsy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- rs796052313
- ClinGen CA313534
- ClinVar RCV000186918
- ClinVar RCV001068685
- Likely benign
- Familial sleep-related hypermotor epilepsy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.12
- CADD 8.79
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)